Canonical Allele Identifier: CA1050115995
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1704768286
gnomAD v3: 3-81646641-G-C
gnomAD v4: 3-81646641-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646641G>C , CM000665.2:g.81646641G>C GRCh38
NC_000003.11:g.81695792G>C , CM000665.1:g.81695792G>C GRCh37
NC_000003.10:g.81778482G>C NCBI36
NG_011810.1:g.120160C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-159C>G MANE Select ENSP00000410833.2:n.692-159C>G
ENST00000429644.6:c.692-159C>G ENSP00000410833.2:n.692-159C>G
ENST00000489715.1:c.569-159C>G ENSP00000419638.1:n.569-159C>G
ENST00000498468.1:n.220-137C>G
NM_000158.3:c.692-159C>G NP_000149.3:n.692-159C>G
NM_000158.4:c.692-159C>G MANE Select NP_000149.4:n.692-159C>G
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